From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations

More than 2000 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been described that confer a range of molecular cell biological and functional phenotypes. Most of these mutations lead to compromised anion conductance at the apical plasma membrane of secretory epitheli...

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Vydáno v:Mol Biol Cell
Hlavní autoři: Veit, Gudio, Avramescu, Radu G., Chiang, Annette N., Houck, Scott A., Cai, Zhiwei, Peters, Kathryn W., Hong, Jeong S., Pollard, Harvey B., Guggino, William B., Balch, William E., Skach, William R., Cutting, Garry R., Frizzell, Raymond A., Sheppard, David N., Cyr, Douglas M., Sorscher, Eric J., Brodsky, Jeffrey L., Lukacs, Gergely L.
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society for Cell Biology 2016
Témata:
MBoC Perspective on Cell Biology and Human Health
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4751594/
https://ncbi.nlm.nih.gov/pubmed/26823392
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1091/mbc.E14-04-0935
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